Variant report

Variant	nsv1023633
Chromosome Location	chr8:5157363-5170509
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 245 )
Associated
traits (count: 124 )

Variant overlapped rSNPs/rCNVs (count:245 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4875493	chr8:5157363-5157364	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs373393740	chr8:5157366-5157367	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs186856664	chr8:5157374-5157375	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs568599657	chr8:5157379-5157380	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs550871379	chr8:5157397-5157398	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs555512366	chr8:5157400-5157401	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs4875494	chr8:5157408-5157409	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs535285265	chr8:5157423-5157424	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs553394226	chr8:5157431-5157432	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs78435499	chr8:5157435-5157436	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs548936235	chr8:5157441-5157442	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs545404353	chr8:5157455-5157456	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs563700995	chr8:5157458-5157459	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs79384164	chr8:5157471-5157472	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs543157009	chr8:5157473-5157474	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs114708189	chr8:5157474-5157475	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs192100654	chr8:5157481-5157482	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs182164676	chr8:5157486-5157487	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs11783530	chr8:5157521-5157522	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs143159381	chr8:5157528-5157529	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs11782756	chr8:5157542-5157543	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs568534976	chr8:5157562-5157563	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs148197974	chr8:5157568-5157569	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs80023480	chr8:5157572-5157573	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs112399285	chr8:5157815-5157816	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs150891277	chr8:5157817-5157818	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs139335418	chr8:5157821-5157822	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs35858997	chr8:5157850-5157851	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs13275405	chr8:5157853-5157854	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs535765034	chr8:5157865-5157866	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs555384109	chr8:5157869-5157870	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs200144949	chr8:5157871-5157872	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs386721498	chr8:5157873-5157874	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs13276499	chr8:5157875-5157876	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs566427849	chr8:5157893-5157894	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs149643417	chr8:5157897-5157898	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs546851045	chr8:5157898-5157899	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs557924151	chr8:5157899-5157900	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs144371233	chr8:5157902-5157903	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs539296513	chr8:5157906-5157907	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs557687471	chr8:5157911-5157912	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs13273544	chr8:5157912-5157913	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs13273557	chr8:5157922-5157923	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs13249114	chr8:5157938-5157939	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs573237722	chr8:5157966-5157967	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs540745320	chr8:5157972-5157973	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs187648278	chr8:5157979-5157980	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs148722585	chr8:5157983-5157984	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs544055676	chr8:5157984-5157985	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs17351786	chr8:5158004-5158005	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:124)

Disease	PMID	Source
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Prostate cancer	16573809	CNVD
Myelofibrosis	22110671	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
abnormal development	18461090	CNVD
Crohn''s disease	19220326	CNVD
Psoriasis	19220326	CNVD
Prostate cancer	21965145	CNVD
Prostate cancer	18515986	CNVD
Chronic obstructive pulmonary disease	20378733	CNVD
Autism	18414403	CNVD
Cancer	21183584	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Breast cancer	17603634	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Ovarian cancer	20844748	CNVD
Cervical cancer	17311676	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Schizophrenia	20877625	CNVD
Disorders of sex development	21048976	CNVD
Colorectal cancer	16272173	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Breast cancer	17001317	CNVD
Thyroid cancer	19087340	CNVD
Multiple myeloma	16616336	CNVD
Hepatocellular carcinoma	22174799	CNVD
Heart disease	21282601	CNVD
T-cell lymphomas	19863542	CNVD
Ovarian cancer	22174824	CNVD
Colorectal cancer	21297112	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Salivary gland tumor	18059337	CNVD
Breast cancer	17133270	CNVD
Melanoma	18172304	CNVD
Medulloblastoma	21979893	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Breast cancer	17393978	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Cancer	21637783	CNVD
Breast cancer	20837533	CNVD
Squamous cell cancer	21044232	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	22429812	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Colorectal cancer	20709793	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Endometrial cancer	22040021	CNVD
Basal cell lymphoma	21115979	CNVD
Breast cancer	21264507	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Oral cancer	21386901	CNVD
Prostate cancer	21088497	CNVD
Breast cancer	20940404	CNVD
Colorectal cancer	19359472	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Gastric cancer	17167181	CNVD
Prostate cancer	16705090	CNVD
8p-syndrome	17576883	CNVD
Human rectal carcinomas	16397240	CNVD
Medulloblastoma	16968546	CNVD
Lung adenocarcinoma	19525976	CNVD
Lung cancer	19525976	CNVD
Prostate cancer	17245344	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Cancer	16751803	CNVD
Wilms tumour	21544195	CNVD
Gastric cancer	17908304	CNVD
Autism	19415332	CNVD
Malaria	21533027	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Esophageal cancer	21851588	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Breast cancer	21245420	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
Breast cancer	21785460	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Acute myeloid leukemia	20729466	CNVD
Breast cancer	21509527	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Epilepsy	22083797	CNVD
Acute myeloid leukemia	21251322	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21858162	CNVD
lymphocytic leukemia	21291569	CNVD
Liver carcinoma	19366792	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Autism	22495311	CNVD
Congenital diaphragmatic hernia	21064195	CNVD
Cancer	20164920	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Non-small cell lung cancer	21829676	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Prostate cancer	17217626	CNVD
Developmental delay	19128483	CNVD
Neuroticism	17667963	CNVD
Leukoplakia	24403051	CNVD
Intellectual disability	22045946	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	16608533	CNVD
Seminomas	18059402	CNVD
Breast cancer	21364760	CNVD
Urothelial carcinoma	21177765	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Colorectal cancer	16774939	CNVD
Lung squamous cell carcinoma	22363434	CNVD
Cancer	20164919	CNVD
Non-syndromic sensorineural hearing loss	17289997	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Chronic myeloid leukemia	21384125	CNVD
Tetralogy of Fallot	22912587	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Type 2 diabetes	21526130	CNVD
Medulloblastoma	16783165	CNVD

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:5150200-5157400	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr8:5157400-5157600	Enhancers	H9 Cell Line	embryonic stem cell
3	chr8:5157800-5159400	Enhancers	Fetal Muscle Leg	muscle
4	chr8:5158600-5158800	Enhancers	H9 Cell Line	embryonic stem cell
5	chr8:5158600-5159000	Enhancers	ES-I3 Cell Line	embryonic stem cell
6	chr8:5164000-5164200	Enhancers	Pancreas	Pancrea
7	chr8:5169200-5170000	Enhancers	HUES48 Cell Line	embryonic stem cell
8	chr8:5169400-5169800	Enhancers	iPS-18 Cell Line	embryonic stem cell

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